Variant report

Variant	rs62175993
Chromosome Location	chr2:179905175-179905176
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10497530	0.93[EUR][1000 genomes]
rs10497531	0.85[EUR][1000 genomes]
rs10497532	0.85[EUR][1000 genomes]
rs11883598	0.85[EUR][1000 genomes]
rs11883599	0.85[EUR][1000 genomes]
rs11883748	0.93[EUR][1000 genomes]
rs11885227	0.85[EUR][1000 genomes]
rs11885400	0.85[EUR][1000 genomes]
rs11885450	0.85[EUR][1000 genomes]
rs11886627	0.84[EUR][1000 genomes]
rs11887988	0.85[EUR][1000 genomes]
rs11890988	0.85[EUR][1000 genomes]
rs11891599	0.85[EUR][1000 genomes]
rs11891608	0.85[EUR][1000 genomes]
rs11891654	0.85[EUR][1000 genomes]
rs11892227	0.95[EUR][1000 genomes]
rs11893153	0.85[EUR][1000 genomes]
rs11893315	0.95[EUR][1000 genomes]
rs11895391	0.85[EUR][1000 genomes]
rs11896002	0.85[EUR][1000 genomes]
rs11896686	0.84[EUR][1000 genomes]
rs11897059	0.85[EUR][1000 genomes]
rs11899563	0.93[EUR][1000 genomes]
rs11901386	0.85[EUR][1000 genomes]
rs11901918	0.85[EUR][1000 genomes]
rs11902355	0.93[EUR][1000 genomes]
rs11903793	0.85[EUR][1000 genomes]
rs12467652	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12474600	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16866624	0.85[EUR][1000 genomes]
rs17362972	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17363006	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17363057	0.85[EUR][1000 genomes]
rs1875779	0.93[EUR][1000 genomes]
rs1875782	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35465824	0.82[EUR][1000 genomes]
rs35888089	0.85[EUR][1000 genomes]
rs35979436	0.83[EUR][1000 genomes]
rs4435492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4893864	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4991006	0.93[EUR][1000 genomes]
rs61397643	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62175366	0.95[EUR][1000 genomes]
rs62175367	0.95[EUR][1000 genomes]
rs62175401	0.88[EUR][1000 genomes]
rs62175402	0.90[EUR][1000 genomes]
rs62175403	0.90[EUR][1000 genomes]
rs62175411	0.85[EUR][1000 genomes]
rs62175420	0.85[EUR][1000 genomes]
rs62175421	0.85[EUR][1000 genomes]
rs62175422	0.85[EUR][1000 genomes]
rs62175444	0.85[EUR][1000 genomes]
rs62175990	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176021	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176023	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62176024	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62176026	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62176027	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62176028	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62176030	0.85[ASN][1000 genomes]
rs6433747	0.85[EUR][1000 genomes]
rs6433748	0.85[EUR][1000 genomes]
rs6433749	0.85[EUR][1000 genomes]
rs6433750	0.85[EUR][1000 genomes]
rs6433751	0.85[EUR][1000 genomes]
rs6433752	0.85[EUR][1000 genomes]
rs6709090	0.93[EUR][1000 genomes]
rs6716599	0.95[EUR][1000 genomes]
rs6716713	0.95[EUR][1000 genomes]
rs6716728	0.95[EUR][1000 genomes]
rs6731564	0.86[EUR][1000 genomes]
rs6731566	0.81[EUR][1000 genomes]
rs6734597	0.93[EUR][1000 genomes]
rs7574853	0.85[EUR][1000 genomes]
rs7575047	0.85[EUR][1000 genomes]
rs7578521	0.85[EUR][1000 genomes]
rs7578961	0.85[EUR][1000 genomes]
rs7579263	0.85[EUR][1000 genomes]
rs7582862	0.85[EUR][1000 genomes]
rs7588765	0.85[EUR][1000 genomes]
rs7596842	0.85[EUR][1000 genomes]
rs7601179	0.85[EUR][1000 genomes]
rs7609150	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875455	chr2:179732845-179909467	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv875457	chr2:179775893-179966804	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv875458	chr2:179780624-179966804	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv875463	chr2:179843612-179909467	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv875464	chr2:179843612-179939493	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv875465	chr2:179843612-179966804	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv875466	chr2:179856777-179909467	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv508184	chr2:179896384-179965419	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179894800-179906800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:179897200-179910600	Weak transcription	Fetal Intestine Large	intestine
3	chr2:179897400-179906200	Weak transcription	Primary B cells from cord blood	blood
4	chr2:179897400-179910600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:179897400-179913000	Weak transcription	Thymus	Thymus
6	chr2:179897400-179913400	Weak transcription	Fetal Thymus	thymus
7	chr2:179897400-179913800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:179897600-179909200	Weak transcription	Right Ventricle	heart
9	chr2:179897600-179912600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:179897600-179913800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:179899200-179908200	Weak transcription	Primary T cells from cord blood	blood
12	chr2:179901800-179909200	Weak transcription	Psoas Muscle	Psoas
13	chr2:179902000-179909200	Weak transcription	Left Ventricle	heart
14	chr2:179903000-179905200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr2:179903200-179908400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:179903200-179910400	Weak transcription	Fetal Heart	heart

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